147 related articles for article (PubMed ID: 2606484)
21. Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.
Caillaud C; Vilarinho L; Vilarinho A; Rey F; Berthelon M; Santos R; Lyonnet S; Briard ML; Osorio RV; Rey J
Hum Genet; 1992 Apr; 89(1):69-72. PubMed ID: 1349566
[TBL] [Abstract][Full Text] [Related]
22. Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.
Hofman KJ; Steel G; Kazazian HH; Valle D
Am J Hum Genet; 1991 Apr; 48(4):791-8. PubMed ID: 2014802
[TBL] [Abstract][Full Text] [Related]
23. Genetic background of clinical homogeneity of phenylketonuria in Poland.
Jaruzelska J; Matuszak R; Lyonnet S; Rey F; Rey J; Filipowicz J; Borski K; Munnich A
J Med Genet; 1993 Mar; 30(3):232-4. PubMed ID: 8097262
[TBL] [Abstract][Full Text] [Related]
24. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Svensson E; Eisensmith RC; Dworniczak B; von Döbeln U; Hagenfeldt L; Horst J; Woo SL
Hum Mutat; 1992; 1(2):129-37. PubMed ID: 1301200
[TBL] [Abstract][Full Text] [Related]
25. Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.
Lichter-Konecki U; Schlotter M; Trefz FK; Konecki DS
Eur J Pediatr; 1989 Nov; 149(2):120-3. PubMed ID: 2591403
[TBL] [Abstract][Full Text] [Related]
26. RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.
Meijer H; Jongbloed RJ; Hekking M; Spaapen LJ; Geraedts JP
Hum Genet; 1993 Dec; 92(6):588-92. PubMed ID: 7903270
[TBL] [Abstract][Full Text] [Related]
27. Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.
Zygulska M; Eigel A; Dworniczak B; Sutkowska A; Pietrzyk JJ; Horst J
Hum Genet; 1991 Nov; 88(1):91-4. PubMed ID: 1683647
[TBL] [Abstract][Full Text] [Related]
28. PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.
Eiken HG; Stangeland K; Skjelkvåle L; Knappskog PM; Boman H; Apold J
Hum Genet; 1992 Mar; 88(6):608-12. PubMed ID: 1312992
[TBL] [Abstract][Full Text] [Related]
29. Identification of a new missense mutation in Japanese phenylketonuric patients.
Goebel-Schreiner B; Schreiner R
J Inherit Metab Dis; 1993; 16(6):950-6. PubMed ID: 8068076
[TBL] [Abstract][Full Text] [Related]
30. [Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].
Wang M
Zhonghua Yi Xue Za Zhi; 1992 Nov; 72(11):670-3, 702-3. PubMed ID: 1338705
[TBL] [Abstract][Full Text] [Related]
31. Mutation analysis of phenylketonuria in south Brazil.
Pérez B; Desviat LR; De Lucca M; Schmidt B; Loghin-Grosso N; Giugliani R; Pires RF; Ugarte M
Hum Mutat; 1996; 8(3):262-4. PubMed ID: 8889586
[No Abstract] [Full Text] [Related]
32. [Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].
Skriabin BV; Koval'chuk LA; Khal'chitskiĭ SE; Gol'tsov AA; Kaboev OK; Plutalov OV; Berlin IuA; Shvarts EI
Bioorg Khim; 1989 Dec; 15(12):1690-2. PubMed ID: 2634967
[TBL] [Abstract][Full Text] [Related]
33. Molecular characterization of PKU allele prevalent in southern Europe and Ireland.
Dasovich M; Konecki D; Lichter-Konecki U; Eisensmith RC; Güttler F; Naughton E; Mullins C; Giovannini M; Riva E; Woo SL
Somat Cell Mol Genet; 1991 May; 17(3):303-9. PubMed ID: 2047941
[TBL] [Abstract][Full Text] [Related]
34. Modern techniques of differentiating the various phenotypes of phenylketonuria.
Guttler F
Postgrad Med J; 1989; 65 Suppl 2():S2-6. PubMed ID: 2576129
[TBL] [Abstract][Full Text] [Related]
35. PAH 399 GTA (Val)----GTT(Val), a new silent mutation found in the Chinese.
Huang SZ; Ren ZR; Zeng YT; Woo SL
Hum Genet; 1991 Jan; 86(3):305-6. PubMed ID: 1997387
[TBL] [Abstract][Full Text] [Related]
36. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.
DiLella AG; Marvit J; Lidsky AS; Güttler F; Woo SL
Nature; 1986 Aug 28-Sep 3; 322(6082):799-803. PubMed ID: 3018584
[TBL] [Abstract][Full Text] [Related]
37. Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Kozák L; Blazková M; Kuhrová V; Pijácková A; Růzicková S; St'astná S
J Med Genet; 1997 Nov; 34(11):893-8. PubMed ID: 9391881
[TBL] [Abstract][Full Text] [Related]
38. Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.
Avigad S; Kleiman S; Weinstein M; Cohen BE; Schwartz G; Woo SL; Shiloh Y
Am J Hum Genet; 1991 Aug; 49(2):393-9. PubMed ID: 1867197
[TBL] [Abstract][Full Text] [Related]
39. Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.
Dehghanian F; Silawi M; Tabei SM
Clin Lab; 2017 Feb; 63(2):295-300. PubMed ID: 28182360
[TBL] [Abstract][Full Text] [Related]
40. Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
Fang B; Yuan L; Wang M; Huang S; Wang T; Miao S; Ye J; Sun N; Lo H; Savio LC
Chin Med Sci J; 1992 Dec; 7(4):205-8. PubMed ID: 1307495
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
